Anu Suomalainen Selected Research

Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)

1/2020	Using urine to diagnose large-scale mtDNA deletions in adult patients.
11/2016	Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathy patients.
10/2016	Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
1/2012	Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
8/2009	A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.
1/2009	Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling.
2/2008	Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
6/2007	Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.
12/2005	Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.
10/2005	Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.

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Anu Suomalainen Research Topics

Disease

36	Mitochondrial Diseases (Mitochondrial Disease) 01/2022 - 09/2004
13	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2020 - 01/2004
12	Mitochondrial Myopathies (Mitochondrial Myopathy) 07/2020 - 05/2010
9	Cardiomyopathies (Cardiomyopathy) 01/2019 - 05/2011
7	Brain Diseases (Brain Disorder) 01/2020 - 11/2007
7	Muscular Diseases (Myopathy) 01/2018 - 07/2005
7	Ataxia (Dyssynergia) 10/2012 - 07/2005
6	Infantile onset spinocerebellar ataxia 12/2018 - 10/2005
5	Disease Progression 11/2020 - 02/2012
5	MELAS Syndrome (Syndrome, MELAS) 01/2019 - 08/2005
4	Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease) 01/2018 - 06/2007
4	Lactic Acidosis 01/2018 - 10/2002
3	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2019 - 05/2010
3	Insulin Resistance 01/2016 - 03/2008
3	Obesity 09/2015 - 03/2008
3	Neurodegenerative Diseases (Neurodegenerative Disease) 08/2013 - 09/2005
3	Heart Diseases (Heart Disease) 01/2013 - 05/2010
3	Ataxia Neuropathy Spectrum 04/2012 - 07/2007
2	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 11/2020 - 03/2015
2	Genomic Instability 08/2020 - 10/2019
2	Weight Loss (Weight Reduction) 01/2020 - 12/2019
2	Trifunctional Protein Deficiency With Myopathy And Neuropathy 10/2019 - 05/2015
2	Muscle Hypotonia (Hypotonia) 01/2019 - 11/2007
2	Intellectual Disability (Idiocy) 01/2019 - 01/2018
2	Stroke (Strokes) 12/2018 - 08/2005
2	Neoplasms (Cancer) 01/2018 - 05/2008
2	Respiratory Insufficiency (Respiratory Failure) 01/2018 - 11/2008
2	Leukoencephalopathies 01/2017 - 01/2015
2	Progeria (Hutchinson Gilford Syndrome) 06/2015 - 01/2012
2	Heart Failure 01/2015 - 01/2013
2	Parkinsonian Disorders (Parkinsonism) 08/2013 - 09/2004
2	Parkinson Disease (Parkinson's Disease) 08/2013 - 06/2010
2	Cytochrome-c Oxidase Deficiency 03/2013 - 02/2012
2	Myocardial Infarction 01/2013 - 07/2010
2	Mitochondrial encephalopathy 10/2012 - 08/2005
2	Deafness (Deaf Mutism) 07/2012 - 02/2008
2	Starvation 09/2011 - 10/2010
2	Ophthalmoplegia (External Ophthalmoplegia) 02/2008 - 11/2007
1	Dystonia (Limb Dystonia) 12/2021
1	Dystonic Disorders (Writer's Cramp) 12/2021
1	Tremor (Tremors) 12/2021
1	Status Epilepticus (Complex Partial Status Epilepticus) 11/2021
1	Seizures (Absence Seizure) 11/2021
1	Necrosis 11/2021
1	Gliosis 01/2020
1	Ketosis 01/2020
1	Sudden Infant Death (SID) 10/2019
1	Weight Gain 01/2019
1	Inclusion Body Myositis 12/2018
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 01/2018
1	Neuropathy ataxia and retinitis pigmentosa 01/2018
1	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers) 01/2018

Drug/Important Bio-Agent (IBA)

49	Mitochondrial DNA (mtDNA)IBA 01/2022 - 01/2004
8	fibroblast growth factor 21IBA 01/2021 - 02/2011
8	DNA Polymerase gammaIBA 08/2013 - 09/2004
7	EnzymesIBA 12/2021 - 09/2004
7	Proteins (Proteins, Gene)FDA Link 11/2020 - 02/2008
6	Biomarkers (Surrogate Marker)IBA 01/2021 - 09/2011
6	Amino Acids FDA Link 01/2016 - 10/2002
5	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2018 - 09/2004
4	NucleotidesIBA 08/2020 - 07/2012
4	CytokinesIBA 08/2017 - 02/2012
4	Transfer RNA (tRNA)IBA 11/2016 - 07/2012
3	Biological ProductsIBA 01/2020 - 03/2008
3	Fatty Acids (Saturated Fatty Acids)IBA 10/2019 - 09/2015
3	Alanine-tRNA LigaseIBA 01/2019 - 05/2011
3	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 02/2012 - 02/2008
2	Oxidoreductases (Dehydrogenase)IBA 12/2021 - 05/2015
2	DNA (Deoxyribonucleic Acid)IBA 01/2021 - 10/2016
2	Ligases (Synthetase)IBA 11/2020 - 01/2015
2	Niacin (Nicotinic Acid)FDA LinkGeneric 07/2020 - 01/2020
2	Hormones (Hormone)IBA 12/2019 - 02/2011
2	Lactic Acid (Lactate)FDA LinkGeneric 01/2019 - 07/2015
2	CarbonIBA 01/2019 - 08/2017
2	Messenger RNA (mRNA)IBA 01/2019 - 01/2016
2	nicotinamide-beta-ribosideIBA 12/2018 - 06/2014
2	Niacinamide (Nicotinamide)FDA LinkGeneric 12/2018 - 06/2014
2	Transcription Factors (Transcription Factor)IBA 01/2016 - 01/2013
2	LipidsIBA 01/2016 - 02/2012
1	Dopamine (Intropin)FDA LinkGeneric 12/2021
1	GuanineIBA 12/2021
1	Guanine NucleotidesIBA 12/2021
1	Inosine Monophosphate (IMP)IBA 12/2021
1	Amyloid (Amyloid Fibrils)IBA 11/2021
1	Growth Differentiation Factor 15IBA 01/2021
1	succinyl-coenzyme A (succinyl-CoA)IBA 11/2020
1	Sirolimus (Rapamycin)FDA Link 01/2020
1	Glucose (Dextrose)FDA LinkGeneric 12/2019
1	CalciumIBA 10/2019
1	MicroRNAs (MicroRNA)IBA 10/2019
1	Ribosomal Proteins (Ribosomal Protein)IBA 01/2019
1	CreatineIBA 12/2018
1	Lys Transfer RNAIBA 01/2018
1	Mitochondrial Proton-Translocating ATPases (Mitochondrial ATP Synthase)IBA 01/2018
1	Adenosine Triphosphatases (ATPase)IBA 01/2018

Therapy/Procedure

7	Therapeutics 01/2021 - 12/2005
3	Ketogenic Diet 01/2020 - 05/2010
1	Euthanasia (Mercy Killing) 11/2021
1	Carbohydrate-Restricted Diet (Low Carbohydrate Diet) 01/2019
1	Heart Transplantation (Grafting, Heart) 11/2018